R69C (p.Arg69Cys) variant of NOD1 (Q9Y239)
R69C (p.Arg69Cys) in NOD1 (Q9Y239) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
R69C (p.Arg69Cys) variant details
- p.Arg69Cys
- rs201002349
- ClinGen CA4205282
- ClinVar RCV004200424
- 1000Genomes rs201002349
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.72
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available